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Ch. 15 - Errors of Meiosis Chromosomal Abnormalities. Chromosomal abnormalities. Incorrect number of chromosomes nondisjunction chromosomes don’t separate properly during meiosis breakage of chromosomes deletion duplication inversion translocation. n. n. Nondisjunction . - PowerPoint PPT Presentation
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AP Biology 2006-2007
Ch. 15 - Errors of MeiosisChromosomal Abnormalities
AP Biology
Chromosomal abnormalities Incorrect number of chromosomes
nondisjunction chromosomes don’t separate properly
during meiosis breakage of chromosomes
deletion duplication inversion translocation
AP Biology
Nondisjunction Problems with meiotic spindle cause errors in
daughter cells homologous chromosomes do not separate
properly during Meiosis 1 sister chromatids fail to separate during Meiosis 2 too many or too few chromosomes
2n n
n
n-1
n+1
AP Biology
Alteration of chromosome number
all with incorrect number 1/2 with incorrect number
error in Meiosis 1
error in Meiosis 2
AP Biologytrisomy
2n+1
Nondisjunction Baby has wrong chromosome number
trisomy cells have 3 copies of a chromosome
monosomy cells have only 1 copy of a chromosome
n+1 n
monosomy2n-1
n-1 n
AP Biology
Human chromosome disorders High frequency in humans
most embryos are spontaneously aborted alterations are too disastrous developmental problems result from biochemical
imbalance imbalance in regulatory molecules?
hormones? transcription factors?
Certain conditions are tolerated upset the balance less = survivable but characteristic set of symptoms = syndrome
AP Biology
Down syndrome Trisomy 21
3 copies of chromosome 21 1 in 700 children born in U.S.
Chromosome 21 is the smallest human chromosome but still severe effects
Frequency of Down syndrome correlates with the age of the mother
AP Biology
Down syndrome & age of motherMother’s age
Incidence of Down Syndrome
Under 30 <1 in 100030 1 in 90035 1 in 40036 1 in 30037 1 in 23038 1 in 18039 1 in 13540 1 in 10542 1 in 6044 1 in 3546 1 in 2048 1 in 1649 1 in 12
Rate of miscarriage due to amniocentesis: 1970s data
0.5%, or 1 in 200 pregnancies 2006 data
<0.1%, or 1 in 1600 pregnancies
AP Biology
Genetic testing Amniocentesis in 2nd trimester
sample of embryo cells stain & photograph chromosomes
Analysis of karyotype
AP Biology
Sex chromosomes abnormalities Human development more tolerant of
wrong numbers in sex chromosome But produces a variety of distinct
syndromes in humans XXY = Klinefelter’s syndrome male XXX = Trisomy X female XYY = Jacob’s syndrome male XO = Turner syndrome female
AP Biology
XXY male one in every 2000 live births have male sex organs, but
are sterile feminine characteristics
some breast development lack of facial hair
tall normal intelligence
Klinefelter’s syndrome
AP Biology
Klinefelter’s syndrome
AP Biology
Jacob’s syndrome male XYY Males
1 in 1000 live male births
extra Y chromosome slightly taller than
average more active normal intelligence, slight learning disabilities delayed emotional maturity normal sexual development
AP Biology
Trisomy X XXX
1 in every 2000 live births produces healthy females
Why? Barr bodies
all but one X chromosome is inactivated
AP Biology
Turner syndrome Monosomy X or X0
1 in every 5000 births varied degree of effects webbed neck short stature sterile
AP Biology
Changes in chromosome structure deletion
loss of a chromosomal segment duplication
repeat a segment inversion
reverses a segment translocation
move segment from one chromosome to another
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AP Biology 2006-2007